Variant report

Variant	rs12802313
Chromosome Location	chr11:108706674-108706675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10502103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10749924	0.82[ASN][1000 genomes]
rs10749925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11212824	0.82[ASN][1000 genomes]
rs11828110	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12574567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12574721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12574758	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12575278	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12577382	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577980	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12785398	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12785439	0.90[ASN][1000 genomes]
rs12786616	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12794048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12794597	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12795663	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12796331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12800516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12800726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12801974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12803616	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12808060	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12808674	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1365046	0.82[ASN][1000 genomes]
rs1365047	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs1365048	0.81[ASN][1000 genomes]
rs1462787	0.93[ASN][1000 genomes]
rs1482268	0.82[ASN][1000 genomes]
rs17108571	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17108579	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17108608	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17108703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17108744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2042677	0.82[ASN][1000 genomes]
rs2042678	0.81[ASN][1000 genomes]
rs2061681	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2553749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2553750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2553751	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2553754	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2553757	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2553758	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs2553760	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs2553761	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs2615727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2615756	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs2726885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2726896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2726907	0.81[ASN][1000 genomes]
rs2726908	0.81[ASN][1000 genomes]
rs2726910	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2726911	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2726913	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2726914	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2726915	0.82[ASN][1000 genomes]
rs2726916	0.85[CHB][hapmap]
rs2726919	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2726920	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs28736339	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34180595	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34350110	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34354308	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34363971	0.82[ASN][1000 genomes]
rs34451436	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34593113	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34805458	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34848528	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34942750	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35085871	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35244070	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35430545	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35517426	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35525430	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35754206	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35756735	0.81[ASN][1000 genomes]
rs35777838	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36006135	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36034048	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36043878	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4317954	0.92[CEU][hapmap];0.91[CHB][hapmap];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57014838	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57484308	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7107825	0.81[ASN][1000 genomes]
rs71489913	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71489916	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71489918	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71489919	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71489922	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71489925	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489928	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71489929	0.82[ASN][1000 genomes]
rs7930675	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs898972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs970164	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108675600-108709400	Weak transcription	Left Ventricle	heart
2	chr11:108676000-108708000	Weak transcription	Primary B cells from cord blood	blood
3	chr11:108677600-108709600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:108680400-108709400	Weak transcription	Primary T cells from cord blood	blood
5	chr11:108680600-108724400	Weak transcription	Aorta	Aorta
6	chr11:108687000-108717000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:108692200-108709400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:108696400-108709200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:108700200-108709600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:108701000-108724400	Weak transcription	NHEK	skin
11	chr11:108701200-108709000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:108701800-108709400	Weak transcription	GM12878-XiMat	blood
13	chr11:108702800-108712000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:108703000-108709400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:108703000-108712000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:108703400-108709200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:108704000-108709800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:108704200-108709200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:108704400-108723000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:108704600-108709200	Weak transcription	Liver	Liver
21	chr11:108705800-108706800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:108706000-108706800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr11:108706200-108706800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:108706200-108707000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr11:108706400-108706800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:108706400-108708000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:108706400-108709000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:108706400-108709200	Weak transcription	K562	blood
29	chr11:108706400-108709400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:108706600-108706800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:108706600-108706800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr11:108706600-108706800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:108706600-108707200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:108706600-108709600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:108706600-108711600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:108706600-108724400	Weak transcription	Small Intestine	intestine

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